#FSHD

[tic-loud-tic-proud]

you fundraised over $2,000 for muscular dystrophy research! you don’t know how much that means to me as someone with muscular dystrophy! I wanted to ask, how did you do it? I’d love to fundraise in my own community. Any tips on how to start?

Thank you so much!

I am a member of a fundraising team for my local chapter of the FSHD Society for facioscapulohumeral muscular dystrophy, the type of MD that I have. As far as I know, the FSHD Society only operates in the USA and Canada, but they have a list of some global FSHD groups here.

The FSHD Society does an annual fundraising event called the Walk and Roll to cure FSHD: this is the only major fundraiser specifically for FSHD in North America. This is the primary way that I've raised money in the past.

Anyone can participate, but the best way is to join or create a fundraising team (fundraising teams raise more than 80% of total donations). FSHD is genetic, so the team I'm on consists mostly of my family members and a few friends that also have FSHD, which classes us as a Friends & Family team (as opposed to a corporate team). You need 4 or more people to make a team.

Teams create a website or Facebook group to document their goals and progress. I'm not sure whether or not this is required, but definitely creates a much easier way for people to send in donations online rather than with cash/check.

Then, get the word out! The easiest way to do this is with social media posts that link to your team's webpage, but some teams also put out flyers. And depending on where you work, you could ask your business to be a corporate sponsor, or do a corporate match program, where every dollar donated by an employee is matched by the corporation. Depending on how much you raise you can receive branded items in return: I've gotten an umbrella, backpack, and duffel bag.

If there is no Walk and Roll event near you, you can participate virtually or donate to the FSHD Society at any time through their website.

My team's $2,000 worth of funds raised is actually on the lower end compared to most other teams, who average over $3,000! But remember that every cent counts towards finding a cure for FSHD and helping people living with it :)

[tic-loud-tic-proud]

I don't talk about it often on my blog but I have a type of muscular dystrophy called Facioscapulohumeral muscular dystrophy type 1 (formerly known as Landouzy-Dejerine Disease), a genetic/chromosomal disorder that causes degenerative muscle wasting and loss as well as chronic muscle pain. It's one of the more common types of muscular dystrophy (MD) but is still rare, only affecting about 4 in 100,000 individuals, about 1 million people worldwide. FSHD1 is caused by a D4Z4 contraction on your chromosomes, which causes your body to produce too much of the DUX4 protein which is toxic to muscle cells. So the muscle cells in your body can't regenerate properly and end up being slowly replaced by fat cells and connective tissue. FSHD type 2 is more complicated and what causes it is unknown. There is no treatment or cure for either type of FSHD.

FSHD causes muscle weakness that starts in your upper body, particularly the face (facio) shoulders (scapulo) and upper arms (humeral). Most people have onset around age 15-30, but some are born with symptoms (infantile FSHD) and some people have all the genetic/chromosomal traits that would cause FSHD but never develop symptoms. The muscle weakness is almost always asymmetrical with the right side of the body being affected more. In addition to upper body weakness it's also super common for people with FSHD to have "potbellies" due to weak or absent abdominal muscles, have hip weakness and pain, and to have ankle/foot issues due to weakness in the peroneal muscles. 70% of us also have chronic pain. Around 20% of people with FSHD need a wheelchair for mobility. FSHD is not terminal like many other types of muscular dystrophy but some people with severe symptoms may have a shorter lifespan.

There's not as much research on this but people with FSHD also have abnormalities in our eyes and are more likely to have hearing loss. Both my grandmother and my uncle who have FSHD are Deaf or Hard of Hearing and have mild or significant vision loss. People with FSHD tend to have similar facial features and look alike because of how muscle loss affects our facial structure.

I personally don't remember when my FSHD symptoms started but I know it was when I was young. FSHD runs very strongly in my family and my mom noticed my shoulder blades, especially my left shoulder blade, would "wing out". I used to play violin but as my FSHD progressed I couldn't hold the violin or play it properly anymore and had to stop (I tried cello for a hot minute but that was even worse). The nail on the coffin was when I was going through blood tests during the diagnostic process for my Tourette's syndrome and they showed levels of creatinine kinase (a type of protein released when you're dealing with muscle damage or loss) that were 3x the normal amount.

I'm a young adult so my FSHD symptoms haven't progressed far enough to be debilitating yet. But they're still noticeable. I can't reach my arms up high enough to reach certain things (but I'm very tall so that isn't usually an issue for me like it is for shorter people with FSHD). I can't close my eyes all the way when I sleep. I used to play volleyball, but had to stop because of arm weakness. I was teased in middle school for "walking like a stripper" because my hips would swing so far when I walked. I dealt with body image issues (and still do) because of my skinny arms (that I jokingly refer to as cigarette arms because of their shape) and potbelly. I have muscle weakness in my lower legs that leads to me tripping and falling more often, and I get ankle injuries all the time. I also deal with chronic muscle pain in my upper arms and face.

I'm somewhat involved in my local FSHD community, even though it's rare enough that there's only a couple people in it that aren't directly related to me lol. I participated in a big Walk & Roll fundraiser for FSHD and my fundraising team was able to raise more than $2,000 for research, a feat I'm still super proud of, and I was also featured on the @/facesoffshd Instagram account a few years back (I won't link either of those for privacy reasons). There's not really a strong FSHD community online besides on Facebook because most people don't know they're affected by it until they're in their 30s/40s, and that demographic is most likely to use Facebook over other social media. I've tried a couple times to build up a stronger FSHD community here on Tumblr especially when I was younger but it's not taken off.

The awareness ribbon colour for FSHD is orange, and our main "symbol" is an orange slice held over the mouth, representing people who lose the ability to smile because of FSHD. The organization for FSHD in the USA is the FSH Society.

Here's some famous people with FSHD!

[image: a man with a buzz cut and short stubble wearing a gray v-neck t shirt.]

Chip Wilson, founder of Lululemon athletic wear.

[image: a woman with shoulder-length brown hair wearing an off-the-shoulder floral blouse.]

Lexi Pappas, filmmaker.

[image: a woman with long brown hair and glasses sitting in a power wheelchair and wearing a yellow dress with a sunshine pattern.]

Marisa Spain, youtuber and advocate for disability accessibility in outdoor spaces.

[image: a man with short brown hair and a beard playing a mandolin]

Joshua Bergmann, bluegrass singer-songwriter and mandolinist. It's not visible in this photo, but he uses a specially-made arm brace to hold his arms in the correct position to play mandolin.

it makes me sad that the same few conditions consume disability discussions. the disability community is so diverse and I know there are other people out there who have diverse experiences. I think the community needs to do a better job of lifting up the voices of people with rare conditions (or even just conditions that aren't spoken about) I want to hear from people who have different experiences from mine. people with rare diseases often have very unique experiences and it's really shameful that we don't get to hear those voices very often.

anyways, if you have a rare disease (hEDS is not rare) or a condition that isn't talked about often feel free to promote your blog or share something on this post.

[uoldesignshow2025]

Aligna

A Wearable Assistive Device for Adolescents and Young Adults living with Facioscapulohumeral Muscular Dystrophy.

The project aims to design a wearable assistive device to support scapular alignment through a discreet exosuit seamlessly integrated in a vest top.

Designed by ELENA SEGURA PICÓN, supervised by DR FARNAZ NICKPOUR.

[ryllen]

baby potions

[katyspersonal]

400+ characters in Elden Ring

my sister in radagon I struggle to name more than 30 💀

(In regards to this ( x ) post) Don't worry, there are just too many and it is fair to choose your 'group' and focus on them! Besides, I've got your back! I've listed them all under cut! But first things first:

It is actually ~283 characters! I swear I've misremembered somehow dhfhsfs ;-; Feel free to revoke my loredigger privilege and never trust me on anything ever again fdshfdhs

Like I said, it is about ~283 characters / ~82 of them are women / only 10 of them are buff or fully armoured (and only 4 of them have a dialogue). That's ~3.5% of the total Elden Ring's cast!

1) Torrent

2) Melina

3) Gloam-Eyed Queen

4,5) "canon" Godskin Duo

6) Maliketh

7) Scadutree Avatar

8) Elden Beast / Ring

9) Marika

10) the Grandmother

11) Radagon

12) Misbegotten Crusader

13) his distinct red wolf

14) a hero in Gelmir that was given one of Radagon's wolves I am not even kidding

15) Godwyn

16) Kristoff

17) Niall

18) Fortissax

19) Lansseax

20) Granssax

21) Godfrey

22) Godefroy

23) Godrick

24, 25, 26, 27, 28) five children of Godrick

29) Gostoc

30) Edgar

31, 31) Irina, Hyetta

33) Revenger

34) Mohg

35) Varre

36) Ansbach

37) Nataan

38) Nerijus

39) Ravenmont

40) Esgar

41) Okina

42) Formless Mother

43) Morgott

44) Oleg

45) Engvall

46) Messmer

47) Messmer's pet hippo :3

48) Kood

49) Queelign

50) Salza

51) Wego

52) Hilde

53) Base Serpent

54) Andreas

55) Huw

56) Edredd

57) Garrew

58) Miquella

59) Loretta

60) Leda

61) Dane

62) Trina

63) Thiollier

64) Dolores

65) Putrescent Knight

66) Malenia

67) God of Rot

68) Moore

69) Finlay

70) Millicent

71, 72, 73, 74) Mary, Maureen, Amy, Polianna

75) the sixth sister

76) Gowry

77) Cleanrot Knight in Stillwater Cave that is connected with Gowry's story

78) Blind Swordsman

79) Blue Dancer / Water Fairy

80) Maleigh

81) Elemer

82) Ranni

83) Celes

84) that ghost guy that says he welcomes Ranni

85) Blaidd

86) Iji

87) Bols

88) Darriwil

89) Adula

90) Floh

91) Seluvis

92) Pidia

93) Therolina

94) Jarwight

95, 96, 97) three other puppets (an Omenkiller, a Nox Swordsman, a Perfumer)

98) the woman whose body was used for Sellen to live in it again

99) Radahn

100) Leonard

101) Ogha

102) Freyja

103) O'Neil

104) Jerren

105) teacher of Radahn and Ogha

106) Red Bear

107) Dancer of Ranah

108) Rakshasa

109) Knight of the Solitary Gaol

110) Rykard

111) Daedicar

112) Zorayas

113) Eiglay

114) Winged Serpent

115) Ghiza

116) ghost guy in Volcano Manor

117) Tanith's bodyguard

118) Devonia

119) Siluria

120) Ordovis

121) Tanith

122) Bernahl

123) Bernahl's Maiden

124) Patches

125) Henricus

126) Anastasia

127) Diallos

128) Lanya

129) Juno

130) Alexander

131) Jar Bairn

132) Great Jar

133) three Great Jar warriors

134) Rennala

135) Rellana

136) Renna / Snowy Crone

137) Moongrum

138) Moonrithyll

139) Miriam

140) the first Carian Queen / Astrologer who discovered a Moon first

141) Carian woman depicted amongst others on Raya Lucaria's portraits (could be named Grana?)

142) Lazuli guy from Raya Lucaria portraits

(^^^ they might be the two non-Demigods yet buried in Liurnian's Mausoleums without bells or knights)

143) Sellen

144) Azur

145) Lusat

146, 147) the Twin Sages

148) Carolos

149) Olivinus

150) Hugues

151) Rabbath

152) Lhutel

153, 154, 155, 156, 157) other five dead Demigods (one is a bastard child of Marika lol)

158) Miriel

159) twin Omens guarding passage to Snowfields

160) Carmaan

161) Tricia

162) Miranda

163) Rollo

164) Dung Eater

165) Boggart

166) Boggart's friend that died behind the scenes

167) Tiche

168) Alecto

169) Fia

170) Rogier

171) Lionel

172) three preset Fia's champions

173) Vyke

174) Vyke's Maiden

175) that Finger Maiden who is found dead at Church of Anticipation

176) Gideon

177) Nepheli

178) Alberich

179) Ensha

180) Enia

181) Vargram

182) Wilhelm

183) Rileigh

184) Crepus

185) Istvan

186) Tragoth

187) Neidhardt

188) Roderika

189) Hewg

190) Goldmask

191) Corhyn

192, 193) Darian, Devin

194) Latenna

195) Lobo

196) Albus

197) Phillia

198) Gaius

199) Gaius' girlfrend/wife

200) Gaia

201) Romina

202) Hornsent Grandam

203) Grandam's dead son

204) Hornsent (the character)

205) Lamenter

206) Meera

207) Labirith

208) Jori

209) Ymir

210) Metyr

211, 212) Jolan, Anna

213, 214) those Nox women whom puppetry originates from

215, 216, 217, 218) four Silver Tears

219) Asimi ("canon" Mimic Tear)

220) Astel in Eternal City

221) Aurelia

222) Aurelitte

223) Boc

224) Boc's mother

225) Kenneth

226) Gilika, Maggie, Margot and Marigga (named Demi-Human Queens)

227) dead Demihuman Queen in Fort Haight

228) Onze

229) Garris

230, 231) two children of Garris

232) wife of Garris

233) Fell God

234) last Fire Giant

235) Arghanthy

236) Adan

237) Birac

238) Amon

239) a unique wounded Black Knife

240) Serosh

241) Stormhawk King

242) Deenh

243) Placidusax

244) Placi's God

245) that woman depicted in Farum Azula

246) Gladius looking mfer ALSO depicted in Farum Azula

247) Florissax

248) Eleonora

249) Ancient Dragon man

250) Senessax

251) Bayle

252) Igon

253) Greyoll

254) Greyll

255) Smarag

256) Ekzykes

257) Agheel

258) Borealis

259) Makar

260) Theodorix

261, 262, 263, 264, 265) five children of Greyoll (no I am not excluding them, they are non-respawning and killing each chips away from Greyoll's HP :( )

266) Yura

267) Shabriri

268) Kale

269) Midra

270) Nanaya

271) Madding Hand

272) the singular sealed Three Fingers

273) a Tarnished that befriended Ancestral Followers

274) Magnus

275) Logur

276) Rugalea

278) Ralva

279) the Outer God that Twinbird served

280) Twinbird

281, 282, 283) Rhia, Dheo and Miyr can be names of Two Fingers like Celes

284) bruh, you

___________________

Cut Content:

Floral Crucible person (in cut content tailsman)

Rico

Shane

Ondrej

Gnarrl

Guilbert

Goliath

Lacrima

[kristsune]

sometimes the pipeline of watching a vid on some making of who framed roger rabbit into watching some ... interesting experimental animation after midnight is real

[fairyfawm]

i have a neurologist appointment in about a month that i'm quite nervous about due to previously being dismissed/not having my concerns listened to, so gonna post this to ask for some advice on getting Taken Seriously or if anyone knows things about the type of condition i might have about what i should be asking them to do/test.

might be quite long so putting it under a read more, and tw for medical stuff and doctors being dismissive. also i am So So Tired and therefore not able to think very clearly so apologies if i've messed up any of the medical info about conditions i mention and apologise just generally for the rambliness of my writing.

summary of why i'm going:

bunch of disabling symptoms that have continually progressed over the past 5+ years, including: muscle weakness, fatigue, muscle twitches/small spasms, nerve pain, blurry vision, lack of coordination (have this from autism, however has gotten significantly worse recently so might also be related to neuro stuff). first symptoms were difficulty having my arms over my head (like having to take multiple breaks while putting my hair into a ponytail because i couldn't hold my arms over my head for the like.. three minutes to do a ponytail) and blurry vision (that optometrist has said seems like might be due to a systemic disease because of how variable it is) since i was 13, which was seven years ago. i started getting more impairing symptoms when i was 15, and began needing a wheelchair for anything that required standing or walking for more than 10 - 15 minutes. i'm currently 20 and need my wheelchair whenever i leave the house, i can't leave the house or do things around the house often, i can stand for a max of like four minutes and can't hold my hands above my head for more than like 30 seconds to one minute. pretty much all my symptoms get a lot worse with any exertion.

GP thinks i have myasthenia gravis, but the test for acetylcholine receptor antibodies was negative and he doesn't have the ability to do other tests.

the neurologist has already said he thinks i have functional neurological disorder and that i should do CBT and pysio to improve my functioning (i already know CBT is horrible for me, i'm in other therapy which is good, i've done some psyio before but she just taught me some stretches and that was it, more psyio could be good but it'd have to be with someone who isn't trying to do a graded exercise therapy type thing since i get PEM). he has mentioned doing a spine MRI but this hasn't been done yet. he said he doesn't want to do further testing for myasthenia gravis but i will probably try to get him to agree to doing a repetitive nerve stimulation EMG or something.

i also have scapular winging on the side of my body with worse muscular symptoms which has also caused a lot of nerve pain, and i might also have some sort of spine issues (straightening of cervical lordosis was seen on a CT scan, they said it was probably due to muscle spasms, and i get a lot of neck pain which might be due to that? as well as a ton of back pain along my spine. might have CCI but haven't been tested yet). since it seems like i'm getting some structural changes in areas where i also get a lot of the pain and weakness and spasms i'm hoping if i bring that up the neurologist might maybe look more at organic causes + the state of those structural changes but i dunno.

he did a basic neurological exam in my initial appointment with him and said that i have give way weakness/waxing and waning weakness because when he got me to do the pushing my limbs against resistance i could do okay for a couple seconds but couldn't maintain it. he also said in the letter that i had positive hoovers sign however i am.. very confused by this because from my understanding hoovers sign is mainly looked at when someone has one limb that's at least somewhat "normal" and one that either can't be moved or is very weak, and then the person can't move the weak leg but when asked to push the stronger leg against resistance they push the weak leg down. both my legs are strong enough that i can stand and whilst one leg is a bit weaker they're relatively similar. i lifted and pushed against resistance with both legs so.... i am not sure how hoovers is applicable here? does anyone know why it was applied and if that was correct or if i should be challenging that? he's saying that the give way weakness and positive hoovers are indicators that the problem is "non-organic" and therefore should be treated with CBT and pysio.

i'm not sure what i think is actually going on. i think myasthenia gravis might make sense, but also so could other neuromuscular diseases like a mitochondrial disease or something. also very possible it's myalgic encephalomyelitis (aka chronic fatigue syndrome) but obviously that one is a diagnosis of exclusion so i want to rule other things out if possible. i want to know what's going on so i can have the best chance of being as well as is possible for me. i know CBT is not right for me and whilst some type of pysio could help a bit/prevent some decline (based on past experience i know it won't Cure Me but obviously it can help a bit to build some muscle or maintain range of motion and things like that which are important) if there's other things i can do on top of that i want to.

i've tried to do research to work out the best tests to ask for and i think EMG might be good but also know a normal EMG doesn't typically pick up myasthenia gravis so it needs to also have repetitive nerve stimulation i think?

i can't see a different neurologist at least not anytime soon, so i need to get this neurologist to do as much to help as possible. a social worker from where i get therapy is coming to the appointment to help me so that should be good but i need to work out what the best way to advocate for myself is and what tests are going to be the most useful to ask for.

if anyone has any advice for getting doctors to take you seriously or for any tests i should be advocating for or conditions i should be looking into or anything i would really appreciate it <3 (emoticon description: heart)

[emiliosandozsequence]

aa!! thank u for tagging me @obedient

last song - the only way from arcane favourite colour - all shades of blue last book - kingdom of ash by sjm & the cinnamon bun bookstore by laurie gilmore (two very different books fshd) last tv show - arcane sweet/spicy/savoury - savory + spicy relationship status - living with my soulmate and my cats :3 last thing i googled - 'light aura' <- this was book research current obsession - reading, a song of ice and fire, throne of glass, arcane, and score music looking forward to - honest to g-d i'm afraid to look forward to anything bc of how bad my luck is

i tag @thinking-in-broken-scenes @loureedpiss @deadhandmaiden @naysaltysalmon @lavendulafaerie @paganmindidnothingwrong @godtrauma @degenderates and anyone else who wants to!!

[bisresearch0]

Antibody Conjugate Oligonucleotides Market - Analysis and Forecast, 2035-2035 | BIS Research

Antibody Conjugate Oligonucleotides (ACOs) combine the gene-modulating properties of oligonucleotides with the specificity of antibodies in cell-targeting, marking a revolutionary breakthrough in precision medicine. ACOs are revolutionizing the treatment of complicated ailments like cancer, genetic abnormalities, and neurological diseases by making it possible to deliver therapeutic oligonucleotides selectively to the cells that cause disease. These innovative bioconjugates address major issues with traditional drug delivery systems by providing tailored therapy with fewer off-target effects. ACOs are emerging as a promising class of medicines due to rapid research and development, especially in oncology and uncommon genetic illnesses. Their promise is further enhanced by their integration with cutting-edge technologies like CRISPR, which represents a major advancement in the development of gene-targeted and personalized therapies.

What is the current size of the Antibody-Oligonucleotide Conjugates market?

In 2025, The Antibody Conjugate Oligonucleotide Market  is poised for substantial growth, driven by the rising demand for targeted therapies and advancements in genetic medicine. In 2024, the market is expected to expand as research in monoclonal antibody-oligonucleotide conjugates accelerates, particularly in oncology, autoimmune diseases, and genetic disorders. 

What diseases can be treated with AOCs?

Antibody-Oligonucleotide Conjugates are being developed to treat genetic disorders like DMD (Duchenne Muscular Dystrophy) and FSHD (Facioscapulohumeral Muscular Dystrophy), neurological diseases such as ALS (Amyotrophic Lateral Sclerosis) and SMA (Spinal Muscular Atrophy), various cancers, and infectious diseases like HBV (Hepatitis B Virus) and HIV (Human Immunodeficiency Virus), by enabling targeted delivery of therapeutic nucleic acids.

Key Players

Avidity Biosciences centered on creating Antibody-Oligonucleotide Conjugates (AOCs) to treat uncommon disorders of the muscles. In order to increase targeted delivery to muscle tissue, their lead candidate, AOC 1001, is being researched for Duchenne muscular dystrophy (DMD).

Dyne Therapeutics focuses on employing targeted oligonucleotide delivery in genetic treatments for muscular disorders. Dyne's Dyn101, which prioritizes optimal tissue penetration and efficacy, is undergoing clinical development for DMD.

Tallac Therapeutics works on conjugates of antibodies and oligonucleotides for use in immune-oncology. Their platform of TLR9 agonists is intended to directly induce immune responses inside tumors.

Market Segmentation

1. By Type:

Monoclonal Antibody-Oligonucleotide Conjugates

Polyclonal Antibody-Oligonucleotide Conjugates

Others

2. By Oligonucleotide Type:

Antisense Oligonucleotides

Small Interfering RNA (siRNA)

Others

3. By Target Disease:

Oncology

Autoimmune Diseases

Neurological Disorders

Genetic Disorders

Others

4. By Region:

North America

Europe

Asia Pacific

Rest of World

Which regions are leading in AOC development and commercialization?

North America dominates the market due to strong biotech infrastructure, active R&D, and supportive regulatory frameworks. Key players such as AstraZeneca, Ionis Pharmaceuticals, and Avidity Biosciences are based in the region, driving innovation. The FDA’s expedited approval pathways and focus on precision medicine further support rapid development and commercialization of ACO therapies.

What are the main challenges in scaling AOC production?

High Development Costs: The intricate manufacturing and synthesis procedures demand a large financial outlay, which may restrict accessibility.

Regulatory Hurdles: Navigating stringent regulatory requirements can delay the approval and commercialization of new therapies .

Technical Expertise: Smaller businesses and new entrants may find it difficult to acquire the specific knowledge needed for AOC growth.

Market Drivers

Rising Prevalence of Target Diseases: One major factor propelling the AOC market is the rising prevalence of genetic diseases and cancer. According to the World Health Organization, there are about 9.6 million cancer-related deaths and 18 million new cancer diagnoses each year.

Advancements in Conjugation Technologies: The stability and specificity of AOCs have been improved by recent developments in bioconjugation techniques, including as site-specific conjugation and sophisticated linker technology. These developments improve medicinal efficacy by addressing earlier issues with variable production and off-target effects.

Integration with Gene Editing Tools: The therapeutic possibilities are being expanded by the coupling of AOCs with gene editing technologies such as CRISPR/Cas9. Through precise genetic material delivery and modification made possible by this integration, hitherto incurable diseases may now be treated.

Dive deep into the Antibody Conjugate Oligonucleotide Report by clicking here!

Want to get more information on Health Vertical, Click Here!

Future Outlook

The market for AOC is expected to develop significantly due to strategic alliances, technology breakthroughs, and rising need for tailored treatments. The potential for AOCs to transform therapy paradigms for a variety of diseases becomes more apparent as research advances and more treatments move into clinical trials. Overcoming current obstacles and realizing the full promise of this exciting therapeutic class will need sustained investment and innovation.

Conclusion 

The Antibody-Oligonucleotide Conjugate (AOC) market is poised for significant growth, driven by rising disease prevalence, advancements in conjugation technologies, and integration with gene-editing tools. Leading companies like AbbVie and Avidity Biosciences are at the forefront of innovation in AOCs, which provide tailored medicines for neurological, genetic, and cancer conditions. The outlook is still optimistic in spite of obstacles including high development costs and regulatory barriers. Overcoming current obstacles and realizing the full potential of AOCs to transform treatment options for a range of complicated diseases will require sustained investment in research, technological developments, and strategic partnerships.

[kazifatagar]

Malaysian High School Team Makes History in $101M XPRIZE Healthspan

QuestX Incubator has announced that the BIOARMOR Team is the first high school team from Malaysia and Southeast Asia to become a semifinalist in the $101 million XPRIZE Healthspan. The competition, co-sponsored by Hevolution Foundation and SOLVE FSHD, seeks groundbreaking therapies to extend healthy lifespans. Malaysian High School Team Makes History in $101M XPRIZE Healthspan Comprising 16…

[postsofbabel]

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[twinkl22004]

“Facioscapulohumeral Muscular Dystrophy”, Victor McKusick, Mendelian Inheritance in Man, 1966. 肩胛骨面肌萎縮症。(FSHD).

Here I present: “Facioscapulohumeral Muscular Dystrophy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 肩胛骨面肌萎縮症。(FSHD). INTRODUCTION. Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that…

[drakonfire12]

I'm watching The Man in the High Castle and I'm starting to think they don't know what Landouzy–Dejerine syndrome (aka FSHD) looks like...what was that in S2Ep7? It's called muscle dystrophy for a reason, 'seizures' aren't a typical symptom as far as I know. And there are easier ways to show he has it, 1) scapula winging, or 2) facial weakness (like people asking why he's not smiling and he's confused because he thought he was smiling...).

[ryllen]

i had this (undefinitive) thought once in my head

[rnomics]

Single-cell spatial transcriptomics reveals a dystrophic trajectory following a developmental bifurcation of myoblast cell fates in facioscapulohumeral muscular dystrophy [RESEARCH]

Facioscapulohumeral muscular dystrophy (FSHD) is linked to abnormal derepression of the transcription activator DUX4. This effect is localized to a low percentage of cells, requiring single-cell analysis. However, single-cell/nucleus #RNA-seq cannot fully capture the transcriptome of multinucleated large myotubes. To circumvent these issues, we use multiplexed error-robust fluorescent in situ hybridization (MERFISH) spatial transcriptomics that allows profiling of #RNA transcripts at a subcellular resolution. We simultaneously examined spatial distributions of 140 genes, including 24 direct DUX4 targets, in in vitro differentiated myotubes and unfused mononuclear cells (MNCs) of control, isogenic D4Z4 contraction mutant and FSHD patient samples, as well as the individual nuclei within them. We find myocyte nuclei segregate into two clusters defined by the expression of DUX4 target genes, which is exclusively found in patient/mutant nuclei, whereas MNCs cluster based on developmental states. Patient/mutant myotubes are found in "FSHD-hi" and "FSHD-lo" states with the former signified by high DUX4 target expression and decreased muscle gene expression. Pseudotime analyses reveal a clear bifurcation of myoblast differentiation into control and FSHD-hi myotube branches, with variable numbers of DUX4 target-expressing nuclei found in multinucleated FSHD-hi myotubes. Gene coexpression modules related to extracellular matrix and stress gene ontologies are significantly altered in patient/mutant myotubes compared with the control. We also identify distinct subpathways within the DUX4 gene network that may differentially contribute to the disease transcriptomic phenotype. Taken together, our MERFISH-based study provides effective gene network profiling of multinucleated cells and identifies FSHD-induced transcriptomic alterations during myoblast differentiation. http://genome.cshlp.org/cgi/content/short/34/5/665?rss=1&utm_source=dlvr.it&utm_medium=tumblr

[healthcarehubhh]

Muscular Dystrophy Treatment: An Overview of Current and Emerging Therapies

Muscular dystrophies are a group of genetic diseases that weaken the muscles over time. While there is no cure, ongoing research looks to improve treatments and quality of life for patients. Types of Muscular Dystrophy There are several different types of muscular dystrophy. The most common are: - Duchenne muscular dystrophy (DMD): A severe form that affects boys typically beginning between ages 3-5. Over time, it causes progressive muscle degeneration and loss of ambulation. Gene therapy and exon skipping hold promise to treat the underlying cause. - Becker muscular dystrophy (BMD): A milder variation of DMD that progresses more slowly over time. Treatments focus on managing symptoms and delaying functional decline. - Limb-girdle muscular dystrophy (LGMD): A group of conditions characterized by gradual weakening of the shoulder, pelvic, and other proximal muscles. Over 30 subtypes are known with varying causes and symptoms. - Facioscapulohumeral muscular dystrophy (FSHD): Causes weakness in the face, shoulder blades, and upper arms. Physical and occupational therapy help maximize function. - Myotonic dystrophy (DM): The most common adult form, it causes myotonia (delayed muscle relaxation) and other multi-system symptoms. Management focuses on complications. Current Muscular Dystrophy Treatment Approaches While there is no cure for muscular dystrophy, current treatment strategies aim to improve quality of life by managing symptoms, preserving function, and delaying disease progression. Physiotherapy/Occupational Therapy: Early intervention with exercises tailored to the individual can improve mobility, muscle strength, flexibility, and delay loss of function. Heat/cold therapies, bracing, and adaptive equipment also help. Corticosteroids: For DMD patients, daily corticosteroids like deflazacort or prednisone can modestly prolong ambulation by reducing inflammation and strengthening muscle fibers. However, long-term use risks side effects. Assistive Devices: Wheelchairs, braces, walkers, and lifts help patients carry out daily living activities as their condition advances. Proper fitting is important to avoid injury. Orthopedic Surgeries: Scoliosis correction, tendon lengthening, and joint replacement surgeries address specific muscular dystrophy complications and functional limitations. Nutritional Supplements: Creatine monohydrate supplements may provide small benefits for some patients by increasing phosphocreatine stores in muscles. A balanced, calorie-appropriate diet supplies needed nutrients. Emerging Muscular Dystrophy Treatments for Genetic Causes In the last decade, significant progress has been made in the development of therapies targeting the genetic roots of muscular dystrophies. These include: Gene Therapy: For DMD, gene therapy aims to restore dystrophin production through direct delivery of new genes or editing of existing genes. Several clinical trials show promise of improved motor function. Exon Skipping: Certain antisense oligonucleotides are being developed to "skip over" specific exons in the dystrophin gene, allowing for an altered but still functional protein to be produced. Exondys 51 is FDA-approved for DMD. Read-Through Drugs: Compounds like ataluren aim to induce "read-through" of premature stop codons in dystrophin gene transcripts, allowing for full-length protein formation. Studies are ongoing. Anti-Inflammatory Drugs: Mitigating inflammation in muscle tissues may help slow disease progression. drugs like eteplirsen for DMD are under investigation. Stem Cell Therapy: Some sources hope stem cells may one day directly replace or regenerate damaged muscle fibers, but this approach remains experimental.